Prenatal diagnosis of hemoglobinopathies.
Hemoglobinopathies are frequently occurring disorders for which prenatal diagnosis is possible. Couples in which one parent has microcytic hypochromic red blood cells; is of Southeast Asian, Mediterranean, Middle Eastern, Indian, or African origin; or had one previous child with a known hemoglobinopathy or a previous hydropic stillbirth should be investigated. The hemoglobinopathies have been the paradigm of prenatal diagnosis, and the lessons learned from their study are now being applied to a range of other genetic disorders for which the responsible genes have been identified.
Fischel-Ghodsian
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UCLA School of Medicine.
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics